chr3:10149809:C>T Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,191,493-10,191,493 View the variant detail on this assembly version.
hg38 chr3:10,149,809-10,149,809

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.486C>T NP_000542.1:p.Cys162=
NM_198156.2:c.363C>T NP_937799.1:p.Cys121=
Ensemble ENST00000256474.3:c.486C>T ENST00000256474.3:p.Cys162=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608537 OMIM
HGNC 12687 HGNC
Ensembl ENSG00000134086 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from ... UNIPROT 8956040 Detail
Annotation

Annotations

DescrptionSourceLinks
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5030622 dbSNP
Genome
hg38
Position
chr3:10,149,809-10,149,809
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser